Honorable Mention Excerpts

Jio Jeong

Seoul International School
Seongnam-si
South Korea
Teacher: Eugene Lee

The cure for the classic genetic disease students learn about in freshman biology may not be so simple. Sickle cell anemia (SCA) is a disease caused by a point mutation in the gene coding for hemoglobin, the protein that carries oxygen in red blood cells. The disease makes the cells, which normally have a circular shape, curve inwards like a crescent moon, causing them to block the flow of blood, the supply of oxygen to cells, and elimination of carbon dioxide. Those who suffer with the disease, around 300,000 of whom are born every year worldwide, endure immense agony and suffer from the fear of sudden pain attacks, organ failures, strokes, or heart attacks (McKie)…

…Several years ago, researchers discovered the role played by a small enhancer section in the gene BCL11A, as a suppressor of fetal hemoglobin production. This finding allowed investigators to devise a plan for “turning off” the gene to continue the production of fetal hemoglobin, which was known to alleviate the symptoms of the disease if present in the blood in high percentages (Fliesler)…

…As recently as March 2, 2017, a report was published in The New England Journal of Medicine regarding a teenage boy at Necker’s Children Hospital who received gene therapy treatment, LentiGlobin BB305 developed by Bluebird Bio. The boy who exhibited intense SCA symptoms prior to this treatment, to the point that his spleen was removed and hipbones replaced, showed no signs of the disease after (Gallagher). The patient’s bone marrow was extracted and a lentiviral vector containing a gene that had a single difference from the wild type hemoglobin gene at amino acid position 87, was introduced to the collected autologous hematopoietic stem cells. This gene proved to be more effective than the wild type in hindering sickling…

…When the bone marrow was transplanted into the patient, the new blood stem cells replaced the originals that have been destroyed by chemotherapy and multiplied, becoming the new source of red blood cells (Bluebird Bio). For 15 months since treatment stopped, researchers reported that the teenager no longer exhibited symptoms of the disease, supporting the injected stem cells’ ability to continual repopulation (Gallagher)….